ClinVar Miner

Variants studied for Connective tissue disorder

Coded as:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
28 40 447 588 268 1352

Gene and significance breakdown #

Total genes and gene combinations: 84
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HSPG2 0 0 32 29 27 88
FBN2 0 0 24 46 24 82
COL2A1 5 14 13 24 17 72
NOTCH1 0 1 6 55 0 62
COL11A2 0 0 11 40 8 59
FLNB 0 2 27 15 15 59
FBN1 5 4 16 23 10 55
COL11A1 0 1 17 26 10 51
TRIP11 1 2 12 13 19 47
FLNA 0 0 2 38 0 40
MYLK 0 0 10 26 0 36
COL5A1 0 1 9 23 0 33
COL5A2 0 1 11 18 0 30
LIFR 0 0 17 3 7 27
TRPV4 0 1 10 5 10 26
COL1A2 0 0 12 12 0 24
FGFR3 5 0 9 3 7 24
TTC21B 0 1 7 8 8 24
WDR19 1 1 15 2 5 24
COL9A3 0 2 5 3 13 23
MYH11 0 0 4 18 0 22
MYH11, NDE1 0 0 5 17 0 22
COL9A2 0 0 7 6 8 21
IFT122 0 0 11 4 6 21
COL1A1 0 0 7 13 0 20
NEK1 1 0 11 4 3 19
COL3A1 0 0 6 11 0 17
SLC26A2 3 1 6 2 5 17
LBR 0 0 11 1 4 16
ARSL 0 0 5 5 5 15
COL9A1 1 1 6 4 3 15
IFT80, TRIM59-IFT80 0 0 5 7 3 15
COMP 0 0 6 4 3 13
PTH1R 0 0 7 5 1 13
WDR35 0 0 7 2 4 13
CBS 1 0 7 1 3 12
PRKG1 0 0 3 9 0 12
NKX3-2 0 1 4 2 4 11
SOX9 1 2 4 1 3 11
EIF2AK3 0 0 6 3 1 10
DDR2 0 0 2 4 3 9
DYM 0 0 2 2 4 8
HSPG2, LDLRAD2 0 0 2 5 1 8
MATN3 0 0 5 1 2 8
SLC39A13 0 0 5 1 2 8
FBN2, LOC126807501 0 0 3 2 2 7
NSDHL 0 0 2 2 3 7
COL9A3, LOC126863084 0 0 0 2 4 6
PEX7 1 0 3 1 1 6
SLC35D1 0 0 4 1 1 6
SMAD3 2 0 1 3 0 6
ACTA2 0 0 1 4 0 5
HSPG2, LOC126805655 0 0 3 0 2 5
SHOX 0 0 1 1 3 5
TGFBR3 0 0 1 4 0 5
COL5A1, LOC101448202 0 0 2 2 0 4
EBP 0 1 2 1 0 4
IFT43 0 0 4 0 0 4
MATN3, WDR35-DT 0 0 1 1 2 4
NTM 0 0 0 3 0 3
TGFB2 0 0 0 3 0 3
TGFBR2 1 0 0 2 0 3
EIF2AK3, LOC101928371 0 0 0 2 0 2
FLNB, LOC129936935 0 0 0 2 0 2
LOC107652445, SHOX 0 1 0 0 1 2
LOC108021846, SOX9 0 1 1 0 0 2
LOC126860794, NOTCH1 0 0 0 2 0 2
ALPL 0 0 1 0 0 1
CLCN7 0 0 0 1 0 1
COL11A1, LOC126805814 0 0 0 1 0 1
COL1A1, LOC126862586 0 0 0 1 0 1
FBN1, LOC113939944 0 0 1 0 0 1
FLNA, LOC107988032 0 0 0 1 0 1
IFT122, LOC126806810 0 0 0 0 1 1
LOC126806791, MYLK 0 0 0 1 0 1
LOC126863212, OFD1, TRAPPC2 0 0 1 0 0 1
LOX, SRFBP1 0 0 1 0 0 1
MFAP5 0 0 1 0 0 1
OFD1, TRAPPC2 0 1 0 0 0 1
PRDM5 0 0 1 0 0 1
TGFBR1 0 0 0 1 0 1
TNFRSF11B 0 0 1 0 0 1
WNT1 0 0 1 0 0 1
ZNF469 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome Diagnostics Laboratory, The Hospital for Sick Children 24 35 335 208 268 870
Center for Human Genetics, Inc, Center for Human Genetics, Inc 3 5 112 390 0 510
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1

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